DNAH5

DNAH5
Identifiers
Gene ontology
Molecular function	nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding microtubule motor activity
Cellular component	cytoplasm cell projection cilium dynein complex microtubule outer dynein arm cytoskeleton axoneme 9+2 motile cilium axonemal dynein complex extracellular region
Biological process	flagellated sperm motility outer dynein arm assembly microtubule-based movement cilium assembly cilium movement determination of left/right symmetry heart development lateral ventricle development epithelial cilium movement involved in extracellular fluid movement
Sources:Amigo / QuickGO

Ensembl				ENSG00000039139	ENSMUSG00000022262
UniProt	Q8TE73	Q8VHE6
RefSeq (mRNA)	NM_001369	NM_133365
RefSeq (protein)	NP_001360	NP_579943
Location (UCSC)	Chr 5: 13.69 – 14.01 Mb	Chr 15: 28.2 – 28.47 Mb
PubMed search	[3]	[4]

Wikidata

View/Edit Human

View/Edit Mouse

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.^[5][6][7]

DNAH5 is a protein-coding gene.¹ It provides the instructions for synthesizing a protein that belongs to a

.¹ It will function as a force generating protein by using ATP, producing the power stroke for cilia.³

During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.³ Mutations in DNAH5 are linked to

.⁴

References

^{[1] [2] [3] [4]}

External links

• GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia

Further reading

• Jouannet P, Escaller D, Serres C, David G (1983). "Motility of human sperm without outer dynein arms". J. Submicrosc. Cytol. 15 (1): 67–71.
  PMID 6221120
  .
• Vaughan KT, Mikami A, Paschal BM, et al. (1997). "Multiple mouse chromosomal loci for dynein-based motility". Genomics. 36 (1): 29–38.
  PMID 8812413
  .
• Neesen J, Koehler MR, Kirschner R, et al. (1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202.
  PMID 9373155
  .
• Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81.
  PMID 10997877
  .
• Omran H, Häffner K, Völkel A, et al. (2000). "Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene". Am. J. Respir. Cell Mol. Biol. 23 (5): 696–702.
  PMID 11062149
  .
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5.
  PMID 14702039
  .
• Horváth J, Fliegauf M, Olbrich H, et al. (2005). "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients". Am. J. Respir. Cell Mol. Biol. 33 (1): 41–7.
  PMID 15845866
  .
• Olbrich H, Horváth J, Fekete A, et al. (2006). "Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia". Pediatr. Res. 59 (3): 418–22.
  PMID 16492982
  .
• Hornef N, Olbrich H, Horvath J, et al. (2006). "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects". Am. J. Respir. Crit. Care Med. 174 (2): 120–6.
  PMID 16627867
  .

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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1. ^ DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019.
2. ^ Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatric Pulmonology. 2012;47(9):864-875. doi:10.1002/ppul.22520.
3. ^ Andjelkovic M, Minic P, Vreca M, et al. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLOS ONE. 2018;13(10). doi:10.1371/journal.pone.0205422.
4. ^ Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of Assisted Reproduction and Genetics. 2016;34(2):275-281. doi:10.1007/s10815-016-0849-3.